Oleg V. Evgrafov

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Mendelian Disorder, Disease Mechanism, Wilson Disease Gene +11

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

Michael J. Gandal, Pan Zhang, Evi Hadjimichael et al. · Science · 2018 · 1.3K citations · Full text

Psychiatric Disorders, Genetics, Genetic Epidemiology +22

Comprehensive functional genomic resource and integrative model for the human brain

Daifeng Wang, Shuang Liu, Jonathan Warrell et al. · Science · 2018 · 1K citations · Full text

Neurogenomics, Genetics, Genetic Epidemiology +26

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Mingfeng Li, Gabriel Santpere, Yuka Imamura Kawasawa et al. · Science · 2018 · 854 citations · Full text